RT Journal Article
T1 Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma
A1 Errazquin, Ricardo
A1 Carrasco, Estela
A1 Del Marro, Sonia
A1 Suñol, Anna
A1 Peral, Jorge
A1 Ortiz, Jessica
A1 Rubio, Juan Carlos
A1 Segrelles, Carmen
A1 Dueñas, Marta
A1 Garrido-Aranda, Alicia
A1 Alvarez, Martina
A1 Belendez, Cristina
A1 Balmaña, Judith
A1 Garcia-Escudero, Ramon
K1 Oncología
K1 Boca -- Cáncer
AB Fanconi anemia (FA) patients display an exacerbated risk of oral squamous cell carcinoma(OSCC) and oral potentially malignant lesions (OPMLs) at early ages. As patients have defects intheir DNA repair mechanisms, standard-of-care treatments for OSCC such as radiotherapy andchemotherapy, give rise to severe toxicities. New methods for early diagnosis are urgently neededto allow for treatment in early disease stages and achieve better clinical outcomes. We conducteda prospective, longitudinal study wherein liquid biopsies from sixteen patients with no clinicaldiagnoses of OPML and/or OSCC were analyzed for the presence of mutations in cancer genes.The DNA from saliva and plasma were sequentially collected and deep-sequenced, and the clinicalevaluation followed over a median time of approximately 2 years. In 9/16 FA patients, we detectedmutations in cancer genes (mainly TP53) with minor allele frequencies (MAF) of down to 0.07%.Importantly, all patients that had mutations and clinical follow-up data after mutation detection(n = 6) developed oral precursor lesions or OSCC. The lead-time between mutation detection andtumor diagnosis ranged from 23 to 630 days. Strikingly, FA patients without mutations displayed asignificantly lower risk of developing precursor lesions or OSCCs. Therefore, our diagnostic approachcould help to stratify FA patients into risk groups, which would allow for closer surveillance forOSCCs or precursor lesions.
PB MDPI
YR 2023
FD 2023-03-21
LK https://hdl.handle.net/10630/35651
UL https://hdl.handle.net/10630/35651
LA eng
NO Errazquin, R.; Carrasco, E.; Del Marro, S.; Suñol, A.; Peral, J.; Ortiz, J.; Rubio, J.C.; Segrelles, C.; Dueñas, M.; Garrido-Aranda, A.; et al. Early Diagnosis of Oral Cancer and Lesions in Fanconi Anemia Patients: A Prospective and Longitudinal Study Using Saliva and Plasma. Cancers 2023, 15, 1871. https://doi.org/10.3390/ cancers15061871
NO Partial funding for open access charge: Universidad de Málaga
DS RIUMA. Repositorio Institucional de la Universidad de Málaga
RD 21 ene 2026